Literature DB >> 3359667

A de novo interstitial deletion of chromosome 6 (q22.2q23.1).

J P Park1, J M Graham, S Z Berg, D H Wurster-Hill.   

Abstract

A unique interstitial deletion of the long arm of chromosome 6 involving bands q22.2 and q23.1 was observed in a patient referred for craniostenosis and developmental delay. The associated phenotypic anomalies are compared with other reported cases of deletion 6q involving adjacent regions.

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Mesh:

Year:  1988        PMID: 3359667     DOI: 10.1111/j.1399-0004.1988.tb03411.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Authors:  Jill A Rosenfeld; Dina Amrom; Eva Andermann; Frederick Andermann; Martin Veilleux; Cynthia Curry; Jamie Fisher; Stephen Deputy; Arthur S Aylsworth; Cynthia M Powell; Kandamurugu Manickam; Bryce Heese; Melissa Maisenbacher; Cathy Stevens; Jay W Ellison; Sheila Upton; John Moeschler; Wilfredo Torres-Martinez; Abby Stevens; Robert Marion; Elaine Maria Pereira; Melanie Babcock; Bernice Morrow; Trilochan Sahoo; Allen N Lamb; Blake C Ballif; Alex R Paciorkowski; Lisa G Shaffer
Journal:  Neurogenetics       Date:  2012-01-05       Impact factor: 2.660

Review 2.  Genetic advances in craniosynostosis.

Authors:  Wanda Lattanzi; Marta Barba; Lorena Di Pietro; Simeon A Boyadjiev
Journal:  Am J Med Genet A       Date:  2017-02-04       Impact factor: 2.802

3.  6q21-22 deletion syndrome with interrupted aortic arch.

Authors:  Ayumi Matsumoto; Yasuyuki Nozaki; Takaomi Minami; Eriko F Jimbo; Hirohiko Shiraishi; Takanori Yamagata
Journal:  Hum Genome Var       Date:  2015-06-11

4.  Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia.

Authors:  Megan L Donahue; Luis O Rohena
Journal:  Clin Case Rep       Date:  2017-04-26
  4 in total

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